Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000259512 [[124025403, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042956], [124054209, 124054663]] [[124027686, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042956], [124054209, 124054362]]
ENST00000524119 [[124026388, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042959]] None
ENST00000405944 [[124026388, 124027825], [124031434, 124031485], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042956], [124054209, 124054362]] [[124027686, 124027825], [124031434, 124031485], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042956], [124054209, 124054362]]
ENST00000419562 [[124027404, 124027825], [124031434, 124031545], [124033686, 124033739], [124054209, 124054542]] [[124027686, 124027825], [124031434, 124031545], [124033686, 124033739], [124054209, 124054362]]
ENST00000519018 [[124027681, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124037811, 124037890]] [[124027686, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037255]]
ENST00000523036 [[124027685, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124037962, 124038012]] [[124027686, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037255]]
NM_024295 [[124025403, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042956], [124054209, 124054663]] [[124027686, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042956], [124054209, 124054362]]
NM_001134671 [[124025403, 124027825], [124031434, 124031485], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042956], [124054209, 124054663]] [[124027686, 124027825], [124031434, 124031485], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124042844, 124042956], [124054209, 124054362]]
NM_001330601 [[124025403, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037290], [124054209, 124054663]] [[124027686, 124027825], [124031434, 124031545], [124033686, 124033739], [124034923, 124035019], [124035952, 124035979], [124037225, 124037255]]
Promoter
Chrom Start End Description
chr8 124027555 124027564 CAGE_peak_8_at_DERL1_5end
chr8 124037995 124038018 CAGE_peak_6_at_DERL1_5end
chr8 124054439 124054450 CAGE_peak_5_at_DERL1_5end
chr8 124054451 124054460 CAGE_peak_4_at_DERL1_5end
chr8 124054484 124054565 CAGE_peak_1_at_DERL1_5end
chr8 124054569 124054584 CAGE_peak_2_at_DERL1_5end
chr8 124054587 124054598 CAGE_peak_3_at_DERL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I123072 123072001 123074001 2.04 [{'connected_gene': 'TBC1D31', 'score': 562.6}, {'connected_gene': 'DERL1', 'score': 27.1}, {'connected_gene': 'C8orf76', 'score': 9.81}, {'connected_gene': 'RNY4P5', 'score': 0.31}, {'connected_gene': 'HMGB1P19', 'score': 0.23}]
chr8 GH08I123112 123112321 123113176 0.54 [{'connected_gene': 'TBC1D31', 'score': 19.72}, {'connected_gene': 'DERL1', 'score': 11.04}, {'connected_gene': 'HMGB1P19', 'score': 0.39}, {'connected_gene': 'RNY4P5', 'score': 0.2}]
chr8 GH08I123084 123083615 123087523 0.59 [{'connected_gene': 'TBC1D31', 'score': 18.97}, {'connected_gene': 'DERL1', 'score': 11.05}, {'connected_gene': 'FAM83A-AS1', 'score': 10.44}, {'connected_gene': 'FAM83A', 'score': 5.34}, {'connected_gene': 'HMGB1P19', 'score': 0.28}, {'connected_gene': 'RNY4P5', 'score': 0.26}]
chr8 GH08I123095 123095237 123097348 0.52 [{'connected_gene': 'TBC1D31', 'score': 20.22}, {'connected_gene': 'DERL1', 'score': 11.6}, {'connected_gene': 'FAM83A-AS1', 'score': 4.59}, {'connected_gene': 'HMGB1P19', 'score': 0.31}, {'connected_gene': 'RNY4P5', 'score': 0.23}]
chr8 GH08I123181 123181116 123185600 1.93 [{'connected_gene': 'FAM83A', 'score': 564.01}, {'connected_gene': 'ENSG00000253258', 'score': 550.77}, {'connected_gene': 'FAM91A1', 'score': 15.19}, {'connected_gene': 'DERL1', 'score': 14.43}, {'connected_gene': 'FAM83A-AS1', 'score': 14.03}, {'connected_gene': 'WDYHV1', 'score': 4.98}, {'connected_gene': 'ENSG00000253410', 'score': 0.44}]
chr8 GH08I123148 123148578 123149989 1.01 [{'connected_gene': 'FAM83A', 'score': 19.36}, {'connected_gene': 'FAM83A-AS1', 'score': 14.86}, {'connected_gene': 'ENSG00000221461', 'score': 11.1}, {'connected_gene': 'ENSG00000253258', 'score': 11.1}, {'connected_gene': 'DERL1', 'score': 10.59}, {'connected_gene': 'TBC1D31', 'score': 10.59}, {'connected_gene': 'ENSG00000238901', 'score': 9.99}, {'connected_gene': 'ENSG00000253607', 'score': 9.8}, {'connected_gene': 'RNU6-875P', 'score': 9.42}, {'connected_gene': 'MIR548AA1', 'score': 9.41}, {'connected_gene': 'DUTP2', 'score': 9.41}, {'connected_gene': 'PIR54534', 'score': 0.44}, {'connected_gene': 'HMGB1P19', 'score': 0.31}]
chr8 GH08I122987 122987623 122989600 0.76 [{'connected_gene': 'DERL1', 'score': 10.55}, {'connected_gene': 'TBC1D31', 'score': 10.55}, {'connected_gene': 'ZHX2', 'score': 10.02}, {'connected_gene': 'ENSG00000238901', 'score': 9.92}, {'connected_gene': 'FAM83A-AS1', 'score': 9.39}, {'connected_gene': 'ENSG00000259631', 'score': 0.77}, {'connected_gene': 'ENSG00000253607', 'score': 0.39}]
chr8 GH08I123012 123012494 123013038 0.46 [{'connected_gene': 'DERL1', 'score': 19.84}, {'connected_gene': 'TBC1D31', 'score': 11.35}, {'connected_gene': 'ZHX2', 'score': 10.63}, {'connected_gene': 'ENSG00000238901', 'score': 10.21}, {'connected_gene': 'FAM83A-AS1', 'score': 8.84}, {'connected_gene': 'ENSG00000253607', 'score': 0.39}]
chr8 GH08I123017 123017621 123017770 0.2 [{'connected_gene': 'DERL1', 'score': 11.38}, {'connected_gene': 'TBC1D31', 'score': 11.38}, {'connected_gene': 'ZHX2', 'score': 10.63}, {'connected_gene': 'ENSG00000238901', 'score': 10.22}, {'connected_gene': 'FAM83A-AS1', 'score': 8.84}, {'connected_gene': 'ENSG00000253607', 'score': 0.37}]
chr8 GH08I122994 122994151 122995877 1.02 [{'connected_gene': 'DERL1', 'score': 10.09}, {'connected_gene': 'TBC1D31', 'score': 10.09}, {'connected_gene': 'ZHX2', 'score': 10.02}, {'connected_gene': 'ENSG00000259631', 'score': 0.44}, {'connected_gene': 'ENSG00000253607', 'score': 0.44}]
chr8 GH08I123074 123074781 123074881 0.71 [{'connected_gene': 'DERL1', 'score': 12.07}, {'connected_gene': 'TBC1D31', 'score': 12.07}, {'connected_gene': 'RNY4P5', 'score': 0.29}, {'connected_gene': 'HMGB1P19', 'score': 0.25}]
chr8 GH08I123065 123065600 123066000 1.1 [{'connected_gene': 'DERL1', 'score': 13.19}, {'connected_gene': 'TBC1D31', 'score': 13.19}, {'connected_gene': 'ENSG00000238901', 'score': 10.74}, {'connected_gene': 'ENSG00000253607', 'score': 10.45}, {'connected_gene': 'FAM83A-AS1', 'score': 9.31}, {'connected_gene': 'RNY4P5', 'score': 0.34}, {'connected_gene': 'HMGB1P19', 'score': 0.22}]
chr8 GH08I123018 123018267 123019650 0.75 [{'connected_gene': 'DERL1', 'score': 13.1}, {'connected_gene': 'TBC1D31', 'score': 13.1}, {'connected_gene': 'ENSG00000238901', 'score': 10.88}, {'connected_gene': 'FAM83A-AS1', 'score': 10.39}, {'connected_gene': 'ENSG00000253607', 'score': 0.37}]
chr8 GH08I123024 123024959 123026628 0.87 [{'connected_gene': 'DERL1', 'score': 11.35}, {'connected_gene': 'TBC1D31', 'score': 0.37}, {'connected_gene': 'ENSG00000253607', 'score': 0.34}]
chr8 GH08I123040 123040341 123043570 2.27 [{'connected_gene': 'DERL1', 'score': 550.77}, {'connected_gene': 'TBC1D31', 'score': 550.77}, {'connected_gene': 'ENSG00000253607', 'score': 0.28}]
chr8 GH08I123021 123021977 123023150 0.75 [{'connected_gene': 'DERL1', 'score': 11.94}, {'connected_gene': 'TBC1D31', 'score': 0.37}, {'connected_gene': 'ENSG00000253607', 'score': 0.34}]
chr8 GH08I123676 123676863 123679275 0.31 [{'connected_gene': 'DERL1', 'score': 12.52}, {'connected_gene': 'TRMT12', 'score': 10.25}, {'connected_gene': 'KLHL38', 'score': 0.34}, {'connected_gene': 'LOC105375739', 'score': 0.26}]
chr8 GH08I123033 123033601 123039952 1.29 [{'connected_gene': 'DERL1', 'score': 24.56}, {'connected_gene': 'FAM91A1', 'score': 12.89}, {'connected_gene': 'ENSG00000253607', 'score': 11.18}, {'connected_gene': 'TBC1D31', 'score': 0.44}]
chr8 GH08I123616 123615921 123620888 1.35 [{'connected_gene': 'DERL1', 'score': 15.23}, {'connected_gene': 'FAM91A1', 'score': 12.97}, {'connected_gene': 'KLHL38', 'score': 11.48}, {'connected_gene': 'FBXO32', 'score': 10.29}, {'connected_gene': 'LOC105375738', 'score': 8.0}, {'connected_gene': 'GC08P123594', 'score': 0.34}]
chr8 GH08I122816 122816397 122821662 1.06 [{'connected_gene': 'DERL1', 'score': 15.24}, {'connected_gene': 'FAM91A1', 'score': 12.74}, {'connected_gene': 'ZHX2', 'score': 11.62}, {'connected_gene': 'C8orf76', 'score': 10.91}, {'connected_gene': 'ENSG00000238901', 'score': 10.48}, {'connected_gene': 'ENSG00000253607', 'score': 9.92}, {'connected_gene': 'FAM83A-AS1', 'score': 9.74}, {'connected_gene': 'ENSG00000253372', 'score': 0.39}, {'connected_gene': 'GC08P122905', 'score': 0.17}]
chr8 GH08I122821 122821731 122828007 0.52 [{'connected_gene': 'DERL1', 'score': 15.24}, {'connected_gene': 'FAM91A1', 'score': 12.74}, {'connected_gene': 'ZHX2', 'score': 12.24}, {'connected_gene': 'C8orf76', 'score': 10.91}, {'connected_gene': 'ENSG00000238901', 'score': 10.48}, {'connected_gene': 'ENSG00000253607', 'score': 10.44}, {'connected_gene': 'FAM83A-AS1', 'score': 9.74}, {'connected_gene': 'ENSG00000253372', 'score': 0.37}, {'connected_gene': 'GC08P122905', 'score': 0.18}]
chr8 GH08I123057 123057192 123058878 1.13 [{'connected_gene': 'DERL1', 'score': 6.65}, {'connected_gene': 'RNY4P5', 'score': 0.39}, {'connected_gene': 'TBC1D31', 'score': 0.37}, {'connected_gene': 'HMGB1P19', 'score': 0.2}]
chr8 GH08I123415 123415784 123418098 2.19 [{'connected_gene': 'WDYHV1', 'score': 590.43}, {'connected_gene': 'ATAD2', 'score': 550.77}, {'connected_gene': 'LOC105375737', 'score': 550.77}, {'connected_gene': 'DERL1', 'score': 14.56}, {'connected_gene': 'C8orf76', 'score': 9.81}, {'connected_gene': 'GC08P123445', 'score': 0.31}]
chr8 GH08I123724 123724579 123726683 0.31 [{'connected_gene': 'ANXA13', 'score': 11.12}, {'connected_gene': 'FAM91A1', 'score': 10.97}, {'connected_gene': 'KLHL38', 'score': 10.33}, {'connected_gene': 'WDYHV1', 'score': 10.17}, {'connected_gene': 'ATAD2', 'score': 10.17}, {'connected_gene': 'LOC105375738', 'score': 10.05}, {'connected_gene': 'FBXO32', 'score': 9.95}, {'connected_gene': 'DUTP2', 'score': 9.54}, {'connected_gene': 'MIR548AA1', 'score': 9.54}, {'connected_gene': 'RNU6-875P', 'score': 9.53}, {'connected_gene': 'FAM83A-AS1', 'score': 9.27}, {'connected_gene': 'DERL1', 'score': 6.28}, {'connected_gene': 'LOC105375739', 'score': 0.44}]
chr8 GH08I123394 123394349 123397350 2.37 [{'connected_gene': 'ATAD2', 'score': 552.28}, {'connected_gene': 'FAM91A1', 'score': 40.02}, {'connected_gene': 'DERL1', 'score': 23.18}, {'connected_gene': 'C8orf76', 'score': 10.58}, {'connected_gene': 'WDYHV1', 'score': 7.34}, {'connected_gene': 'ZHX1', 'score': 1.3}, {'connected_gene': 'IMPDH1P6', 'score': 0.77}, {'connected_gene': 'GC08M123342', 'score': 0.31}]
chr8 GH08I122779 122779714 122784151 2.54 [{'connected_gene': 'ZHX2', 'score': 565.41}, {'connected_gene': 'ENSG00000272384', 'score': 550.77}, {'connected_gene': 'ENSG00000272043', 'score': 550.77}, {'connected_gene': 'DERL1', 'score': 10.78}, {'connected_gene': 'TBC1D31', 'score': 10.78}, {'connected_gene': 'C8orf76', 'score': 1.41}, {'connected_gene': 'PIR52073', 'score': 0.37}]
chr8 GH08I122759 122759594 122761024 1.13 [{'connected_gene': 'ZHX2', 'score': 11.86}, {'connected_gene': 'ENSG00000253607', 'score': 10.54}, {'connected_gene': 'DERL1', 'score': 10.28}, {'connected_gene': 'TBC1D31', 'score': 10.28}, {'connected_gene': 'ENSG00000238901', 'score': 10.13}, {'connected_gene': 'FAM83A-AS1', 'score': 9.2}, {'connected_gene': 'CDK5P1', 'score': 0.44}, {'connected_gene': 'GC08M122743', 'score': 0.39}]
chr8 GH08I122758 122757182 122757351 0.93 [{'connected_gene': 'ZHX2', 'score': 11.86}, {'connected_gene': 'DERL1', 'score': 10.28}, {'connected_gene': 'TBC1D31', 'score': 10.28}, {'connected_gene': 'ENSG00000253607', 'score': 10.07}, {'connected_gene': 'FAM83A-AS1', 'score': 9.21}, {'connected_gene': 'GC08M122743', 'score': 0.39}, {'connected_gene': 'CDK5P1', 'score': 0.39}]
chr8 GH08I122757 122757886 122759377 0.83 [{'connected_gene': 'ZHX2', 'score': 11.86}, {'connected_gene': 'DERL1', 'score': 10.28}, {'connected_gene': 'TBC1D31', 'score': 10.28}, {'connected_gene': 'ENSG00000253607', 'score': 10.07}, {'connected_gene': 'FAM83A-AS1', 'score': 9.2}, {'connected_gene': 'GC08M122743', 'score': 0.39}, {'connected_gene': 'CDK5P1', 'score': 0.39}]
chr8 GH08I123612 123612307 123614870 0.93 [{'connected_gene': 'LOC105375738', 'score': 550.77}, {'connected_gene': 'DERL1', 'score': 12.95}, {'connected_gene': 'TRMT12', 'score': 12.43}, {'connected_gene': 'FAM91A1', 'score': 10.35}, {'connected_gene': 'ENSG00000253106', 'score': 10.05}, {'connected_gene': 'GC08P123594', 'score': 0.37}]
chr8 GH08I123139 123139153 123140032 0.43 [{'connected_gene': 'FAM83A-AS1', 'score': 16.93}, {'connected_gene': 'DERL1', 'score': 10.98}, {'connected_gene': 'TBC1D31', 'score': 10.98}, {'connected_gene': 'FAM83A', 'score': 10.65}, {'connected_gene': 'ENSG00000238901', 'score': 10.42}, {'connected_gene': 'ENSG00000253607', 'score': 9.75}, {'connected_gene': 'HMGB1P19', 'score': 0.37}, {'connected_gene': 'PIR54534', 'score': 0.37}]
chr8 GH08I122773 122773842 122773991 0.2 [{'connected_gene': 'GC08P122779', 'score': 550.77}, {'connected_gene': 'GC08P122776', 'score': 550.77}, {'connected_gene': 'PIR58723', 'score': 550.77}, {'connected_gene': 'GC08P122778', 'score': 550.77}, {'connected_gene': 'GC08P122777', 'score': 550.77}, {'connected_gene': 'ENSG00000238901', 'score': 10.4}, {'connected_gene': 'ENSG00000253607', 'score': 10.4}, {'connected_gene': 'DERL1', 'score': 10.08}, {'connected_gene': 'TBC1D31', 'score': 10.08}, {'connected_gene': 'CDK5P1', 'score': 0.77}]
chr8 GH08I122688 122688317 122691086 1.07 [{'connected_gene': 'ENSG00000253607', 'score': 10.13}, {'connected_gene': 'DERL1', 'score': 10.11}, {'connected_gene': 'TBC1D31', 'score': 10.11}, {'connected_gene': 'LINC01151', 'score': 0.77}, {'connected_gene': 'GC08M122692', 'score': 0.77}, {'connected_gene': 'ENSG00000238901', 'score': 0.37}, {'connected_gene': 'GC08P122613', 'score': 0.18}]
chr8 GH08I123022 123021390 123021955 0.68 [{'connected_gene': 'ENSG00000253607', 'score': 0.37}, {'connected_gene': 'DERL1', 'score': 0.34}, {'connected_gene': 'TBC1D31', 'score': 0.34}]
chr8 GH08I123155 123155623 123159400 1.53 [{'connected_gene': 'PIR54534', 'score': 550.77}, {'connected_gene': 'TRM-CAT1-1', 'score': 550.77}, {'connected_gene': 'FAM91A1', 'score': 31.75}, {'connected_gene': 'DERL1', 'score': 25.56}, {'connected_gene': 'FAM83A', 'score': 10.88}, {'connected_gene': 'C8orf76', 'score': 10.44}, {'connected_gene': 'FAM83A-AS1', 'score': 8.58}, {'connected_gene': 'TBC1D31', 'score': 0.13}]

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